Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
Definition
An autosomal recessive syndromic cerebellar ataxia caused by variation in the RFC1 gene, characterized by late-onset cerebellar dysfunction (including gait and limb ataxia, nystagmus, and dysarthria), bilateral vestibulopathy (abnormal vestibulo-ocular reflex), and axonal sensory neuropathy. Variable features may include chronic cough and autonomic dysfunction. Brain imaging usually shows cerebellar atrophy.
Also known as CABV syndrome, CANVAS, cerebellar ataxia with bilateral vestibulopathy syndrome, cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux, hereditary sensory and autonomic neuropathy type 1B, hereditary sensory and autonomic neuropathy type IB, hereditary sensory neuropathy type IB, HSAN with cough and gastroesophageal reflux, HSAN1B, HSN1B, neuropathy, hereditary sensory and autonomic, type 1B, neuropathy, hereditary sensory, type IB — per MONDO